This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| MBNL1-20-RE | 20 (40 μL) | 200 μL |  |
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| MBNL1-20-OR | 20 (40 μL) | 200 μL |  |
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| MBNL1-20-GO | 20 (40 μL) | 200 μL |  |
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| MBNL1-20-GR | 20 (40 μL) | 200 μL |  |
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| MBNL1-20-AQ | 20 (40 μL) | 200 μL |  |
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This gene encodes a member of the muscleblind protein family which was initially described in Drosophila melanogaster. The encoded protein is a C3H-type zinc finger protein that modulates alternative splicing of pre-mRNAs. Muscleblind proteins bind specifically to expanded dsCUG RNA but not to normal size CUG repeats and may thereby play a role in the pathophysiology of myotonic dystrophy. Mice lacking this gene exhibited muscle abnormalities and cataracts. Several alternatively spliced transcript variants have been described but the full-length natures of only some have been determined. The different isoforms are thought to have different binding specificities and/or splicing activities. [provided by RefSeq, Sep 2015]
Gene Symbol : MBNL1
Gene Name : Muscleblind like splicing regulator 1
Chromosome : CHR 3: 152,243,655-152,465,779
Locus : 3q25.1-q25.2
Alt. Genes : ENAM
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